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Prenatal diagnosis and genetic counseling of uniparental disomy

1 Mar 2022

Abstract excerpt

Uniparental disomy (UPD) is the inheritance of both homologous chromosomes from a single parent. Most chromosomes involving UPD have no pathogenic effects. However, abnormal phenotypes in cases with UPD can be mainly caused by disrupting genetic imprinting and by uncovering harmful autosomal recessive mutations. The documented phenotypes of UPD associated with imprinted genes include maternal UPD for chromosomes...

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Share to Epigenetics and DNA Methylation
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PMID: 35361378
DOI: 10.1016/j.tjog.2022.02.006

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